{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T09:26:52Z","timestamp":1778232412098,"version":"3.51.4"},"reference-count":27,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2021,5,30]],"date-time":"2021-05-30T00:00:00Z","timestamp":1622332800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Osteopetrosis is a rare form of skeletal dysplasia characterized by increased bone density that leads to bone marrow failure, compressive neuropathy, and skeletal dysmorphism. Molecular diagnosis is essential as it guides treatment and prognosis. We report Thai siblings with an ultra\u2010rare form of osteopetrosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The older brother and the younger sister presented with chronic mandibular osteomyelitis in their 20s. Since childhood, they had visual impairment, pathological fracture, and skeletal dysmorphism.<\/jats:p><jats:p>Quadruplet whole\u2010exome sequencing was performed and confirmed with Sanger sequencing. Novel mutation in <jats:italic>TNFSF11<\/jats:italic> (<jats:italic>RANKL<\/jats:italic>) c.842T&gt;G, p.Phe281Cys was identified in a homozygous state in both siblings.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Surgical debridement, antibiotic, and hyperbaric oxygen therapy were used and discontinued over a 6\u2010month period with normalization of C\u2010reactive protein. Hematopoietic stem cell transplantation candidacy was excluded by molecular diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We report a novel mutation in an ultra\u2010rare form of osteopetrosis. Our siblings manifested with a milder phenotype in comparison with nine cases previously published.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1727","type":"journal-article","created":{"date-parts":[[2021,5,31]],"date-time":"2021-05-31T06:37:07Z","timestamp":1622443027000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Identification of novel mutation in <i>RANKL<\/i> by whole\u2010exome sequencing in a Thai family with osteopetrosis; a case report and review of <i>RANKL<\/i> osteopetrosis"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8808-3829","authenticated-orcid":false,"given":"Pongtawat","family":"Lertwilaiwittaya","sequence":"first","affiliation":[{"name":"Department of Medicine Faculty of Medicine Siriraj Hospital Mahidol University Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bhoom","family":"Suktitipat","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Medicine Siriraj Hospital Mahidol University Bangkok Thailand"},{"name":"Integrative Computational BioScience Center Mahidol University Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Phongphak","family":"Khongthon","sequence":"additional","affiliation":[{"name":"Research Division Faculty of Medicine Siriraj Hospital Mahidol University Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1274-6988","authenticated-orcid":false,"given":"Warut","family":"Pongsapich","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Faculty of Medicine Siriraj Hospital Mahidol University Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chanin","family":"Limwongse","sequence":"additional","affiliation":[{"name":"Department of Medicine Faculty of Medicine Siriraj Hospital Mahidol University Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3611-5718","authenticated-orcid":false,"given":"Manop","family":"Pithukpakorn","sequence":"additional","affiliation":[{"name":"Department of Medicine Faculty of Medicine Siriraj Hospital Mahidol University Bangkok Thailand"},{"name":"Siriraj Center of Research Excellence in Precision Medicine Faculty of Medicine Siriraj Hospital Mahidol University Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,5,30]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biomaterials.2014.12.033"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcms.2018.09.004"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/me.2007-0465"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky471"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr510"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2018-224452"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12663-011-0196-y"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.3715"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13046-018-1001-2"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.13-13567"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI13890"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2015.3152"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1155\/2013\/412768"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.4076"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2014-208085"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/sctm.18-0085"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1359\/JBMR.050807"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11914-018-0415-2"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2019.00085"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0128481"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2076"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2013.137"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0180056"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2014.00511"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2017-01127"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0901-5027(05)80055-4"}],"container-title":["Molecular Genetics &amp; 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